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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: X-70035380-AC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=70035380&ref=AC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 70035380,
"ref": "AC",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "ENST00000374552.9",
"consequences": [
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA",
"gene_hgnc_id": 3157,
"hgvs_c": "c.948delC",
"hgvs_p": "p.Phe317fs",
"transcript": "NM_001399.5",
"protein_id": "NP_001390.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 391,
"cds_start": 948,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1144,
"cdna_end": null,
"cdna_length": 5235,
"mane_select": "ENST00000374552.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA",
"gene_hgnc_id": 3157,
"hgvs_c": "c.948delC",
"hgvs_p": "p.Phe317fs",
"transcript": "ENST00000374552.9",
"protein_id": "ENSP00000363680.4",
"transcript_support_level": 1,
"aa_start": 316,
"aa_end": null,
"aa_length": 391,
"cds_start": 948,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1144,
"cdna_end": null,
"cdna_length": 5235,
"mane_select": "NM_001399.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA",
"gene_hgnc_id": 3157,
"hgvs_c": "c.942delC",
"hgvs_p": "p.Phe315fs",
"transcript": "ENST00000374553.6",
"protein_id": "ENSP00000363681.2",
"transcript_support_level": 1,
"aa_start": 314,
"aa_end": null,
"aa_length": 389,
"cds_start": 942,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 5272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA",
"gene_hgnc_id": 3157,
"hgvs_c": "c.933delC",
"hgvs_p": "p.Phe312fs",
"transcript": "ENST00000524573.5",
"protein_id": "ENSP00000432585.1",
"transcript_support_level": 1,
"aa_start": 311,
"aa_end": null,
"aa_length": 386,
"cds_start": 933,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 1125,
"cdna_end": null,
"cdna_length": 1381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA",
"gene_hgnc_id": 3157,
"hgvs_c": "c.942delC",
"hgvs_p": "p.Phe315fs",
"transcript": "NM_001005609.2",
"protein_id": "NP_001005609.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 389,
"cds_start": 942,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 1138,
"cdna_end": null,
"cdna_length": 5229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA",
"gene_hgnc_id": 3157,
"hgvs_c": "c.939delC",
"hgvs_p": "p.Phe314fs",
"transcript": "NM_001440761.1",
"protein_id": "NP_001427690.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 388,
"cds_start": 939,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 1135,
"cdna_end": null,
"cdna_length": 5226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA",
"gene_hgnc_id": 3157,
"hgvs_c": "c.933delC",
"hgvs_p": "p.Phe312fs",
"transcript": "NM_001005612.3",
"protein_id": "NP_001005612.2",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 386,
"cds_start": 933,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 5220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA",
"gene_hgnc_id": 3157,
"hgvs_c": "c.906delC",
"hgvs_p": "p.Phe303fs",
"transcript": "NM_001440762.1",
"protein_id": "NP_001427691.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 377,
"cds_start": 906,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1102,
"cdna_end": null,
"cdna_length": 5193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA",
"gene_hgnc_id": 3157,
"hgvs_c": "c.552delC",
"hgvs_p": "p.Phe185fs",
"transcript": "ENST00000616899.1",
"protein_id": "ENSP00000481963.1",
"transcript_support_level": 5,
"aa_start": 184,
"aa_end": null,
"aa_length": 259,
"cds_start": 552,
"cds_end": null,
"cds_length": 780,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 4643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EDA",
"gene_hgnc_id": 3157,
"dbsnp": "rs727503010",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 3.455,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000374552.9",
"gene_symbol": "EDA",
"hgnc_id": 3157,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "XL,AD",
"hgvs_c": "c.948delC",
"hgvs_p": "p.Phe317fs"
}
],
"clinvar_disease": "Hypohidrotic X-linked ectodermal dysplasia",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Hypohidrotic X-linked ectodermal dysplasia",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}